Deep brain stimulation in myoclonus-dystonia syndrome.
Identifieur interne : 000E57 ( Ncbi/Curation ); précédent : 000E56; suivant : 000E58Deep brain stimulation in myoclonus-dystonia syndrome.
Auteurs : Laura Cif [France] ; Enza Maria Valente ; Simone Hemm ; Christine Coubes ; Nathalie Vayssiere ; Stéphanie Serrat ; Annalisa Di Giorgio ; Philippe CoubesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Anticonvulsants (therapeutic use), Child, Combined Modality Therapy, DNA Primers (genetics), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Dystonic Disorders (therapy), Electric Stimulation (instrumentation), Epilepsies, Myoclonic (diagnosis), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (therapy), Gene Deletion, Genotype, Humans, Male, Molecular Chaperones (genetics), Pedigree, Polymerase Chain Reaction, Severity of Illness Index, Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : DNA Primers, Molecular Chaperones.
- chemical , therapeutic use : Anticonvulsants.
- diagnosis : Dystonic Disorders, Epilepsies, Myoclonic.
- genetics : Dystonic Disorders, Epilepsies, Myoclonic, Trinucleotide Repeats.
- instrumentation : Electric Stimulation.
- therapy : Dystonic Disorders, Epilepsies, Myoclonic.
- Child, Combined Modality Therapy, Gene Deletion, Genotype, Humans, Male, Pedigree, Polymerase Chain Reaction, Severity of Illness Index.
Abstract
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. We conclude that deep brain stimulation can be an effective and safe treatment for MDS.
DOI: 10.1002/mds.20030
PubMed: 15197720
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pubmed:15197720Le document en format XML
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<front><div type="abstract" xml:lang="en">Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. We conclude that deep brain stimulation can be an effective and safe treatment for MDS.</div>
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